家族性レシチン・コレステロール・アシルトランスフェラーゼ欠損症の一家系

• 高田 耕基

  First Department of Internal Medicine, Hiroshima University

• 堀内 至

  First Department of Internal Medicine, Hiroshima University

• 岡橋 誠

  First Department of Internal Medicine, Hiroshima University

• 大木 正美

  First Department of Internal Medicine, Hiroshima University

• 徳毛 宏則

  First Department of Internal Medicine, Hiroshima University

• 野村 洋子

  First Department of Internal Medicine, Hiroshima University

• 平岡 俊仁

  First Department of Internal Medicine, Hiroshima University

• 小出 和伸

  First Department of Internal Medicine, Hiroshima University

• 平田 康彦

  First Department of Internal Medicine, Hiroshima University

• 梶山 梧朗

  First Department of Internal Medicine, Hiroshima University

• 浅川 順一

  Radiation Effects Research Foundation

• ALBERS J. J.

  washington University

書誌事項

タイトル別名

• A Case of Familial Lecithin: Cholesterol Acyltransferase Deficiency

抄録

A new family with familial lecithin: cholesterol acyltransferase (LCAT) deficiency was examined to elucidate the molecular basis of this disease.<br>Among 23 members of this family there were two homozygotes diagnosed by LCAT mass and activity. They showed a marked decrease in HDL-cholesterol and cholesterol-ester ratio. The clinical characteristics of classic LCAT deficiency were shown in one of them. But another, who was vegetarian, showed coroneal opacity and red cell deformity, but did not showed proteinuria. The enzyme protein level was about 20% of normal average level (5.76±0.95μg/ml) in two homozygotes and the enzyme activities were less than 10% of normal (84±24Δmol. free chol./hr/37°C). Apoprotein A-I, A-II, and B showed significantly low levels and apoprotein E level was high. The isoform of apoprotein E (E 3/3) and A-I₂ rich apoprotein A-I were shown by two demensional electrophoresis.<br>In this family study, LCAT mass and activity identified 3 obligate and 3 presumptive heterozygotes. One of the obligate heterozygote, the mother of proband, showed low LCAT activity with normal LCAT mass. Others showed about half LCAT activity and mass. HDL-cholesterol and apoprotein A-I showed significant reduction in heterozygotes except for the proband's mother.<br>The result in this new family with LCAT deficiency showed that not only the homozygotes but also the heterozygotes had heterogeneity of LCAT mass and activity. The heterogeneity seemed to occur from the variety of the defect of LCAT production and cofactors.

収録刊行物

• 動脈硬化

  動脈硬化 15 (1), 55-62, 1987

  Japan Atherosclerosis Society

詳細情報

• CRID: 1573105978221562112
• NII論文ID: 130004883578
• ISSN: 03862682
• Web Site: https://jlc.jst.go.jp/DN/JALC/00171967072?from=CiNii
• データソース種別:
  • CiNii Articles